ArticleJournal of neurology2012
Endocrine function in 97 patients with myotonic dystrophy type 1.
Article in Journal of neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 60 citations in OpenAlex.
- Therapeutic advances in type 1 myotonic dystrophy complicated with type 2 diabetes mellitus.Frontiers in neurology · 2025Review
- A case of early onset diabetes with myotonic dystrophy type 1.Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2023Article
- Energy Expenditure, Body Composition, and Skeletal Muscle Oxidative Capacity in Patients with Myotonic Dystrophy Type 1.Journal of neuromuscular diseases · 2023Article
- Targeting Myotonic Dystrophy Type 1 with Metformin.International journal of molecular sciences · 2022Review
- Transcriptional signatures of synaptic vesicle genes define myotonic dystrophy type I neurodegeneration.Neuropathology and applied neurobiology · 2021Article
- Diabetes, metformin and cancer risk in myotonic dystrophy type I.International journal of cancer · 2020Article
- Hormonal and metabolic gender differences in a cohort of myotonic dystrophy type 1 subjects: a retrospective, case-control study.Journal of endocrinological investigation · 2020Article
- Predicting daytime sleepiness and fatigue: a 9-year prospective study in myotonic dystrophy type 1.Journal of neurology · 2020Article
- Multisystemic Impairments in 93 Chinese Patients With Myotonic Dystrophy Type 1.Frontiers in neurology · 2020Article
- PREPUBERTAL GYNECOMASTIA: A RARE MANIFESTATION OF MYOTONIC DYSTROPHY TYPE 1.Revista paulista de pediatria : orgao oficial da Sociedade de Pediatria de Sao Paulo · 2020Article
- Systematic thyroid screening in myotonic dystrophy: link between thyroid volume and insulin resistance.Orphanet journal of rare diseases · 2019Article
- Robust Preimplantation Genetic Testing Strategy for Myotonic Dystrophy Type 1 by Bidirectional Triplet-Primed Polymerase Chain Reaction Combined With Multi-microsatellite Haplotyping Following Whole-Genome Amplification.Frontiers in genetics · 2019Article
- Study of anti-Müllerian hormone levels in patients with Myotonic Dystrophy Type 1. Preliminary results.Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2017Article
- Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.Journal of neurology · 2016Article
- Myotonic Dystrophy Type 1 with Syringomyelia in a Young Patient.Chinese medical journal · 2016Article
- Primary Hyperparathyroidism and Hyperthyroidism in a Patient with Myotonic Dystrophy: A Case Report and Review of the Literature.Case reports in endocrinology · 2015Article
- Muscle wasting in myotonic dystrophies: a model of premature aging.Frontiers in aging neuroscience · 2015Review
- Risk factors for osteoporosis, falls and fractures in hereditary myopathies and sporadic inclusion body myositis - A cross sectional survey.Molecular genetics and metabolism reports · 2014Article
- Vitamin D deficiency in myotonic dystrophy type 1.Journal of neurology · 2013Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aim of this study was to investigate the endocrine function and its association to number of CTG repeats in patients with myotonic dystrophy type 1 (DM1). Concentration of various hormones and metabolites in venous blood was used to assess the endocrine function in 97 patients with DM1. Correlation with CTG(n) expansion size was investigated with the Pearson correlation test. Eighteen percent of the DM1 patients had hyperparathyroidism with increased PTH compared with 0.5% in the background population. Of these, 16% had normocalcemia and 2% had hypercalcemia. An additional 3% had hypercalcemia without elevation of PTH; 7% had abnormal TSH values (2% subnormal and 5% elevated TSH levels); 5% of the patients had type 2 diabetes mellitus; 17% of the male DM1 patients had increased LH and low levels of plasma testosterone indicating absolute androgen insufficiency. Another 21% had increased LH, but normal testosterone levels, indicating relative insufficiency. Numbers of CTG repeats correlated directly with plasma PTH, phosphate, LH, and tended to correlate with plasma testosterone for males. This is the largest study of endocrine dysfunction in a cohort of Caucasian patients with DM1. We found that patients with DM1 have an increased risk of abnormal endocrine function, particularly calcium metabolism disorders. However, the endocrine dysfunction appears not to be of clinical significance in all of the cases. Finally, we found correlations between CTG(n) expansion size and plasma PTH, phosphate, and testosterone, and neck flexion strength.
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